Gene: Dync2i2 MGI:1919070

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

dynein 2 intermediate chain 2

Synonyms:

3200002I06Rik, Wdr34

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Dync2i2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Dync2i2 (3 diseases)
Human diseases predicted to be associated with Dync2i2 (608 diseases)

The table below shows human diseases associated to Dync2i2 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Short long bone, Brachydactyly, Postaxial polydactyly	OMIM:615633
Jeune Syndrome	Toe syndactyly, Cone-shaped epiphysis, Short stature, Abnormality of the metaphysis, Short foot, ...	ORPHA:474
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Abnormal pelvis bone ossification, Disproportionate short-limb short stature, Abnormality of the ...	ORPHA:93271

The table below shows human diseases predicted to be associated to Dync2i2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Brachydactyly, Type C	Short middle phalanx of finger, Talipes equinovarus, Short stature, Short 1st metacarpal, Brachyd...	OMIM:113100
Syndactyly Type 2	2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San...	ORPHA:93403
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Talipes equinovarus, Joint contracture of the hand, Spina bifida, Camptodactyly, Small thenar emi...	OMIM:211960
Gombo Syndrome	Microphthalmia, Radial deviation of finger, Clinodactyly, Delayed puberty, Brachydactyly	OMIM:233270
Acropectorovertebral Dysplasia	Tarsal synostosis, Triphalangeal thumb, Synostosis of carpal bones, Finger syndactyly, Spina bifi...	ORPHA:957
Acalvaria	Holoprosencephaly, Spina bifida, Hydrocephalus, Postaxial hand polydactyly	ORPHA:945
Nevus Comedonicus Syndrome	Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida, Spina bifida occulta	ORPHA:64754
Ulnar Hemimelia	Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Ulnar deviated clu...	ORPHA:93320
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Aplasia Cutis Congenita	Toe syndactyly, Spinal dysraphism, Finger syndactyly	ORPHA:1114
Anencephaly 1	Spina bifida, Anencephaly	OMIM:206500
Neural Tube Defects, X-Linked	Spina bifida, Anencephaly	OMIM:301410
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Short stature, Metaphyseal irregularity, Streaky metaphyseal sclerosis, Carpal bone hypoplasia, I...	OMIM:603546
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Aplasia/Hypoplasia of the radius, Spina bifida, Anencephaly	ORPHA:2476
Syndactyly, Type Iv	1-5 finger syndactyly, 2-3 toe syndactyly, Triphalangeal thumb, Polydactyly, Postaxial polydactyl...	OMIM:186200
Frontal Encephalocele	Spina bifida, Hydrocephalus	ORPHA:1931
Congenital Absence Of Upper Arm And Forearm With Hand Present	Polydactyly, Stillbirth, Syndactyly, Upper limb phocomelia, Abnormal hip bone morphology	ORPHA:294975
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Short stature, Polydactyly, Brachydactyly	OMIM:617405
Biemond Syndrome Type 2	Microphthalmia, Short stature, Preaxial polydactyly, Hydrocephalus, Delayed puberty	ORPHA:141333
Triphalangeal Thumb, Nonopposable	Triphalangeal thumb, Polydactyly	OMIM:190600
Humero-Radial Synostosis	Meningocele, Tarsal synostosis, Elbow ankylosis, Aplasia/Hypoplasia of the thumb, Abnormality of ...	ORPHA:3265
Fibular Hemimelia	Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty...	ORPHA:93323
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Intrauterine growth retardation, Microphthalmia, Talipes equinovarus	OMIM:616570
Fryns Microphthalmia Syndrome	Anophthalmia, Microphthalmia, Neural tube defect	OMIM:600776
Camptodactyly Syndrome, Guadalajara Type 1	Toe syndactyly, Hallux valgus, Intrauterine growth retardation, Short stature, Cubitus valgus, Sp...	ORPHA:1327
Meckel Syndrome, Type 2	Meningocele, Microphthalmia, Anencephaly, Polydactyly, Intrauterine growth retardation, Bowing of...	OMIM:603194
Pelvis-Shoulder Dysplasia	Hydranencephaly, Talipes equinovarus, Absent proximal finger flexion creases, Prominent protrudin...	ORPHA:2839
Camptosynpolydactyly, Complex	Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly	OMIM:607539
Congenital Radioulnar Synostosis	Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of...	ORPHA:3269
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type	Bilateral microphthalmos, Postnatal growth retardation, Growth delay, Cervical spina bifida	OMIM:600122
Anophthalmia Plus Syndrome	Anophthalmia, Deviation of finger, Spina bifida	ORPHA:1104
Czeizel-Losonci Syndrome	Single transverse palmar crease, Myelomeningocele, Radial deviation of the thumb, 3-4 finger synd...	ORPHA:2437
Santos Syndrome	Metatarsus adductus, Polydactyly, Talipes equinovarus, Postaxial polydactyly, Short stature, Genu...	OMIM:613005
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia, Intrauterine growth retardation, Short stature, Hypoplastic iliac wing, Metaphyse...	OMIM:300863
Congenital Vertical Talus	Equinus calcaneus, Myelomeningocele, Rocker bottom foot	ORPHA:178382
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects	Cutaneous finger syndactyly, Myelomeningocele, Split hand, Hydrocephalus, Spina bifida occulta, S...	OMIM:183802
Sirenomelia	Aplasia/Hypoplasia of the radius, Spina bifida, Sirenomelia	ORPHA:3169
Schisis Association	Spina bifida, Micromelia, Anencephaly	ORPHA:63862
Craniorachischisis	Sirenomelia, Anencephaly, Myelomeningocele, Bifid sternum, Cervical spina bifida, Spinal dysraphism	ORPHA:63260
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Triphalangeal thumb, Proximal placement of thumb, Abnormal thumb morphology, Bilateral single tra...	ORPHA:1120
Caudal Duplication	Spinal cord lesion, Spina bifida, Myelomeningocele	ORPHA:1756
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Brachydactyly	OMIM:615983
Fountain Syndrome	Metaphyseal dysplasia, Short stature, Large hands, Coarse metaphyseal trabecularization, Brachyda...	ORPHA:3219
Chiari Malformation Type Ii	Myelomeningocele, Syringomyelia, Cervical myelopathy, Spina bifida, Hydrocephalus	OMIM:207950
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Hallux valgus, Adducted thumb, Postaxial polydactyly, Mild short stature, Short thumb, Overlappin...	OMIM:618167
Microphthalmia, Isolated, With Coloboma 5	Holoprosencephaly, Anophthalmia, Microphthalmia, Bilateral microphthalmos	OMIM:611638
2Q24 Microdeletion Syndrome	Toe syndactyly, Microphthalmia, Growth delay, Hand clenching, Long fingers, Bullet-shaped distal ...	ORPHA:1617
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Hartsfield Syndrome	Intrauterine growth retardation, Microphthalmia, Lobar holoprosencephaly, Aplasia/Hypoplasia of t...	ORPHA:2117
Aminopterin/Methotrexate Embryofetopathy	Meningocele, Intrauterine growth retardation, Anencephaly, Short stature, Holoprosencephaly, Apla...	ORPHA:1908
Polydactyly, Postaxial, Type A1	Triphalangeal thumb, Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Broad thumb	OMIM:174200
Isolated Klippel-Feil Syndrome	Spina bifida, Abnormal shoulder morphology	ORPHA:2345
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia, Abnormality of the calcaneus, Short stature, Hypoplastic iliac wing, Metaphyseal ...	ORPHA:163966
Bardet-Biedl Syndrome 12	Polydactyly	OMIM:615989
Polydactyly, Preaxial Iv	3-4 finger syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, Dy...	OMIM:174700
Meckel Syndrome, Type 4	Meningocele, Microphthalmia, Anencephaly, Intrauterine growth retardation, Bowing of the long bon...	OMIM:611134
Microphthalmia, Isolated 4	Microphthalmia, Postaxial polydactyly	OMIM:613094
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Pelvis-Shoulder Dysplasia	Short clavicles, Microphthalmia, Hypoplastic scapulae, Short stature, Hypoplastic acetabulae, Con...	OMIM:169550
Bardet-Biedl Syndrome 6	Syndactyly, Polydactyly	OMIM:605231
Congenital Varicella Syndrome	Intrauterine growth retardation, Microphthalmia, Micromelia	ORPHA:291
Mend Syndrome	2-3 toe syndactyly, Polydactyly, Short stature, Long fingers, Overlapping fingers, Hydrocephalus,...	OMIM:300960
Polydactyly, Postaxial, Type A8	Genu valgum, Short stature, Postaxial polydactyly	OMIM:618123
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia, Short stature, Syndactyly, Clinodactyly, Brachydactyly	OMIM:610023
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Syndactyly, Hydrocephalus, Polydactyly	OMIM:602501
Nail-Patella Syndrome	Patellar aplasia, Hypoplastic radial head, Talipes equinovarus, Iliac horns, Microphakia, Short s...	OMIM:161200
Carpenter Syndrome	Toe syndactyly, Polydactyly, Talipes equinovarus, Finger syndactyly, Genu valgum, Brachydactyly, ...	ORPHA:65759
Cerebrooculofacioskeletal Syndrome 2	Intrauterine growth retardation, Microphthalmia, Rocker bottom foot, Growth delay, Camptodactyly ...	OMIM:610756
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Mmep Syndrome	Microphthalmia, Triphalangeal thumb, Split foot	ORPHA:3434
Bresek Syndrome	Microphthalmia, Intrauterine growth retardation, Growth delay, Neonatal death, Optic nerve hypopl...	ORPHA:85284
Macrosomia With Microphthalmia, Lethal	Microphthalmia	OMIM:248110
Vitamin K Antagonist Embryofetopathy	Intrauterine growth retardation, Myelomeningocele, Epiphyseal stippling, Aplasia/Hypoplasia affec...	ORPHA:1914
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Tethered cord, Spinal dysraphism, Macrodactyly, Sandal gap	OMIM:612918
Nanophthalmos 4	Microphthalmia	OMIM:615972
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Anencephaly, Myelomeningocele	OMIM:182940
Microphthalmia With Limb Anomalies	Toe syndactyly, Tibial bowing, Hand oligodactyly, Microphthalmia, Talipes equinovarus, Camptodact...	OMIM:206920
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Cousin Syndrome	2-3 toe syndactyly, Talipes equinovarus, Prominent protruding coccyx, Joint contracture of the ha...	OMIM:260660
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Bardet-Biedl Syndrome 10	Polydactyly	OMIM:615987
Orofaciodigital Syndrome Xviii	Short middle phalanx of finger, Short stature, Postaxial polydactyly, Preaxial polydactyly, Genu ...	OMIM:617927
Bardet-Biedl Syndrome 7	2-3 toe syndactyly, Clinodactyly, Polydactyly, Postaxial polydactyly	OMIM:615984
Chromosome 1Q41-Q42 Deletion Syndrome	Holoprosencephaly, Short stature, Microphthalmia, Talipes equinovarus	OMIM:612530
Blepharocheilodontic Syndrome 1	Cutaneous syndactyly, Clinodactyly, Neural tube defect	OMIM:119580
Amish Lethal Microcephaly	Spina bifida	ORPHA:99742
Hydrolethalus Syndrome 2	Preaxial polydactyly, Hydrocephalus, Anencephaly, Postaxial polydactyly	OMIM:614120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Hydrocephalus	OMIM:614830
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Meckel Syndrome, Type 8	Microphthalmia, Polydactyly, Talipes equinovarus, Anophthalmia, Postaxial hand polydactyly	OMIM:613885
Meckel Syndrome, Type 5	Microphthalmia, Anencephaly, Bowing of the long bones, Postaxial foot polydactyly, Postaxial hand...	OMIM:611561
Hemihyperplasia, Isolated	Myelomeningocele	OMIM:235000
Vacterl With Hydrocephalus	Arrhinencephaly, Microphthalmia, Intrauterine growth retardation, Anophthalmia, Hypoplasia of the...	ORPHA:3412
Thoraco-Abdominal Enteric Duplication	Meningocele, Diastomatomyelia, Camptodactyly of finger	ORPHA:1759
Thrombocytopenia-Absent Radius Syndrome	Genu varum, Talipes equinovarus, Phocomelia, Short stature, Bilateral radial aplasia, Finger synd...	OMIM:274000
Laurin-Sandrow Syndrome	Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Aplasia/Hypoplasia of the t...	ORPHA:2378
Joubert Syndrome 22	2-3 toe syndactyly, Microphthalmia, Intrauterine growth retardation, Postaxial foot polydactyly, ...	OMIM:615665
Cerebrocostomandibular Syndrome	Meningocele, Hydranencephaly, Intrauterine growth retardation, Myelomeningocele, Short stature, S...	ORPHA:1393
Mosaic Trisomy 9	Microphthalmia, Intrauterine growth retardation, Talipes equinovarus, Rocker bottom foot, Hip dis...	ORPHA:99776
Trisomy 18	Microphthalmia, Anencephaly, Short stature, Intrauterine growth retardation, Holoprosencephaly, A...	ORPHA:3380
Isolated Hemihyperplasia	Myelomeningocele	ORPHA:2128
Focal Dermal Hypoplasia	Toe syndactyly, Short clavicles, Microphthalmia, Hypoplasia of the iris, Abnormality of epiphysis...	ORPHA:2092
Neu-Laxova Syndrome 1	Short umbilical cord, Toe syndactyly, Hydranencephaly, Microphthalmia, Intrauterine growth retard...	OMIM:256520
Tibial Hemimelia	Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip...	ORPHA:93322
Fanconi Anemia, Complementation Group G	Abnormal thumb morphology, Microphthalmia, Growth delay	OMIM:614082
Iniencephaly	Anencephaly, Myelomeningocele, Talipes equinovarus, Holoprosencephaly, Rocker bottom foot, Rhizom...	ORPHA:63259
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Intrauterine growth retardation, Short thumb, Microphthalmia	OMIM:609054
Cofs Syndrome	Intrauterine growth retardation, Short stature, Microphthalmia, Camptodactyly of finger	ORPHA:1466
Basal Cell Nevus Syndrome	Irregular ossification of hand bones, Microphthalmia, Polydactyly, Palmar pits, Short distal phal...	OMIM:109400
Pierpont Syndrome	Broad palm, Microphthalmia, Short stature, Short finger, Short foot, Short palm, Short toe, Deep ...	OMIM:602342
Phaver Syndrome	Broad hallux phalanx, Triphalangeal thumb, Myelomeningocele, Intrauterine growth retardation, Uln...	ORPHA:2876
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Intrauterine growth retardation, Microphthalmia, Short stature	OMIM:616171
Orofaciodigital Syndrome Vi	Toe syndactyly, Short stature, Postaxial polydactyly, Radial deviation of finger, Brachydactyly, ...	OMIM:277170
Waardenburg Syndrome Type 1	Meningocele, Spina bifida	ORPHA:894
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Rocker bottom foot, Second metatarsal posteriorly placed, Joint contracture of th...	OMIM:214150
Acropectoral Syndrome	Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly	OMIM:605967
Craniotelencephalic Dysplasia	Arrhinencephaly, Microphthalmia, Hydrocephalus, Septo-optic dysplasia	ORPHA:1528
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Hydrocephalus	ORPHA:324416
Polydactyly, Preaxial Iii	Triphalangeal thumb, Preaxial polydactyly	OMIM:174600
Microphthalmia, Isolated, With Coloboma 6	Optic disc hypoplasia, Bilateral microphthalmos, Hypoplasia of the fovea	OMIM:613703
Diabetic Embryopathy	Spinal dysraphism, Hydrocephalus, Aplasia/Hypoplasia affecting the eye	ORPHA:1926
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short stature, Postaxial polydactyly, Short metatarsal, Limb undergrowth, Sandal gap, Short metac...	OMIM:617102
Diaphanospondylodysostosis	Narrow pelvis bone, Myelomeningocele	ORPHA:66637
Congenital Toxoplasmosis	Microphthalmia, Hydrocephalus, Intrauterine growth retardation	ORPHA:858
Bardet-Biedl Syndrome 4	Syndactyly, Polydactyly, Brachydactyly	OMIM:615982
Joubert Syndrome 18	Intrauterine growth retardation, Polydactyly, Camptodactyly	OMIM:614815
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia, Growth delay, Short stature	ORPHA:2528
Frontonasal Dysplasia 1	Microphthalmia, Joint contracture of the hand, Radial deviation of finger, Pectoral muscle hypopl...	OMIM:136760
Joubert Syndrome 14	Microphthalmia, Hydrocephalus, Growth delay, Postaxial polydactyly	OMIM:614424
Trisomy 20P	Finger syndactyly, Spina bifida, Camptodactyly of finger, Preaxial hand polydactyly, Abnormal hip...	ORPHA:261318
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Pierpont Syndrome	Microphthalmia, Short finger, Short toe, Excessive wrinkling of palmar skin, Deep palmar crease, ...	ORPHA:487825
Microphthalmia With Limb Anomalies	Arrhinencephaly, Talipes equinovarus, Short stature, Finger syndactyly, Hydrocephalus, Short long...	ORPHA:1106
Triploidy	Meningocele, Intrauterine growth retardation, Holoprosencephaly, Finger syndactyly, Hydrocephalus...	ORPHA:3376
Cloacal Exstrophy	Myelomeningocele, Talipes equinovarus, Absent foot, Hip dislocation, Spina bifida, Abnormality of...	ORPHA:93929
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	2-3 toe syndactyly, Microphthalmia, Short stature, Broad thumb, Optic nerve hypoplasia, Broad pha...	ORPHA:508498
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Broad hallux phalanx, Broad thumb, Finger syndactyly, Exencephaly, Preaxial hand polydactyly	ORPHA:2211
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia, Abnormality of epiphysis morphology, Rhizomelia, Bowing of the long bones, Abnorm...	ORPHA:93267
Temtamy Syndrome	Genu varum, Microphthalmia, Short toe, Clinodactyly of the 5th finger, Brachydactyly	ORPHA:1777
Synpolydactyly 2	Tarsal synostosis, Toe syndactyly, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar...	OMIM:608180
Moebius Syndrome	Microphthalmia, Talipes equinovarus, Hand clenching, Lower limb undergrowth, Aplasia/Hypoplasia i...	OMIM:157900
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Polydactyly, Short stature, Upper limb asymmetry, Postnatal growth retardation, Clinodactyly of t...	ORPHA:231140
Orofaciodigital Syndrome Viii	Syndactyly, Short stature, Polydactyly, Short tibia	OMIM:300484
Meckel Syndrome, Type 3	Hydrocephalus, Polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly	OMIM:607361
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Silver-Russell Syndrome Due To A Point Mutation	Intrauterine growth retardation, Polydactyly, Small placenta, Short 5th finger, Syndactyly, Postn...	ORPHA:397590
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Intrauterine growth retardation, Polydactyly, Hypoplastic ischia	OMIM:616910
Gracile Bone Dysplasia	Microphthalmia, Short stature, Aniridia, Hydrocephalus, Slender long bone, Flared metaphysis, Bra...	OMIM:602361
Polydactyly, Postaxial, Type A7	Postaxial polydactyly	OMIM:617642
Orofaciodigital Syndrome Xvii	Polydactyly, Short stature, Partial duplication of thumb phalanx, Central Y-shaped metacarpal, Cl...	OMIM:617926
Limb Body Wall Complex	Short umbilical cord, Cutaneous finger syndactyly, Bilateral talipes equinovarus, Anencephaly, My...	ORPHA:2369
Hydrolethalus	Arrhinencephaly, Microphthalmia, Anencephaly, Anophthalmia, Hydrocephalus, Postaxial hand polydac...	ORPHA:2189
Wildervanck Syndrome	Meningocele	ORPHA:3456
Fanconi Anemia	Aplasia/Hypoplasia of fingers, Abnormality of the ulna, Triphalangeal thumb, Short stature, Aplas...	ORPHA:84
Cerebrooculofacioskeletal Syndrome 4	Intrauterine growth retardation, Adducted thumb, Rocker bottom foot, Flexion contracture of toe, ...	OMIM:610758
Muscle-Eye-Brain Disease	Meningocele, Holoprosencephaly, Hydrocephalus	ORPHA:588
Craniotelencephalic Dysplasia	Arrhinencephaly, Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Cat-Eye Syndrome	Intrauterine growth retardation, Hip dysplasia, Microphthalmia, Short stature	ORPHA:195
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	2-3 toe syndactyly, Lens coloboma, Microphthalmia, Umbilical hernia, Sandal gap, Joint contractur...	OMIM:618914
Enlarged Parietal Foramina	Broad thumb, Short clavicles, Myelomeningocele	ORPHA:60015
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Intrauterine growth retardation, Short stature, Microphthalmia, Camptodactyly of finger	ORPHA:48431
Joubert Syndrome 10	Growth delay, Postaxial polydactyly	OMIM:300804
Spondylocostal Dysostosis 4, Autosomal Recessive	Spina bifida occulta, Myelomeningocele, Short stature	OMIM:613686
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Bardet-Biedl Syndrome 19	Polydactyly	OMIM:615996
Septooptic Dysplasia	Polydactyly, Short stature, Short finger, Optic disc hypoplasia, Optic nerve hypoplasia	OMIM:182230
Cartilage-Hair Hypoplasia	Metaphyseal dysplasia, Diaphyseal thickening, Tibial bowing, Abnormality of epiphysis morphology,...	ORPHA:175
Monosomy 18P	Holoprosencephaly, Short stature, Microphthalmia, Brachydactyly	ORPHA:1598
Bardet-Biedl Syndrome 9	Polydactyly, Postaxial polydactyly, Syndactyly, Postaxial foot polydactyly, Postaxial hand polyda...	OMIM:615986
Warburg Micro Syndrome 1	Short stature, Microphthalmia, Overlapping toe	OMIM:600118
Phocomelia, Schinzel Type	Meningocele, Fibular aplasia, Radial bowing, Hand oligodactyly, Intrauterine growth retardation, ...	ORPHA:2879
Nanophthalmos	Microphthalmia	ORPHA:35612
Endocrine-Cerebroosteodysplasia	Polydactyly, Ulnar deviation of the hand or of fingers of the hand, Postaxial polydactyly, Holopr...	OMIM:612651
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Subependymal Nodular Heterotopia	Meningocele, Myelomeningocele	ORPHA:101030
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia, Short stature, Tapered finger, Long fingers, Short palm	OMIM:616734
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia, Growth delay	OMIM:278780
Duane-Radial Ray Syndrome	Aplasia of metacarpal bones, Microphthalmia, Triphalangeal thumb, Optic disc hypoplasia, Pectoral...	OMIM:607323
Curry-Jones Syndrome	Toe syndactyly, Microphthalmia, Abnormality of thumb phalanx, Finger syndactyly, Foot polydactyly...	ORPHA:1553
Short-Rib Thoracic Dysplasia 18 With Polydactyly	2-3 toe syndactyly, Radial bowing, Postaxial polydactyly, Ulnar bowing, Preaxial polydactyly, Hyd...	OMIM:617866
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, Short...	ORPHA:2788
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Growth delay	OMIM:274270
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly	OMIM:617119
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Tethered cord, Spinal dysraphism, Short stature	OMIM:617660
Pelger-Huet Anomaly	Upper limb undergrowth, Short 3rd metacarpal, Short 5th metacarpal, Polydactyly, Mild short statu...	OMIM:169400
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Meckel Syndrome, Type 10	Anencephaly, Postaxial polydactyly	OMIM:614175
Ehlers-Danlos Syndrome, Beasley-Cohen Type	Hip dislocation, Bilateral microphthalmos	OMIM:608763
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Ring Chromosome 10 Syndrome	Intrauterine growth retardation, Tapered finger, Microphthalmia, Sandal gap	ORPHA:1438
Jacobsen Syndrome	Broad hallux phalanx, Toe syndactyly, Intrauterine growth retardation, Growth delay, Short statur...	ORPHA:2308
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
15Q24 Microdeletion Syndrome	Myelomeningocele, Short stature, Small hand, Abnormality of toe, Proximal placement of thumb, Abn...	ORPHA:94065
Alg3-Cdg	Abnormality of limb bone morphology, Neural tube defect, Metaphyseal chondrodysplasia	ORPHA:79321
Microcephaly-Micromelia Syndrome	Abnormality of the hand, Microphthalmia, Intrauterine growth retardation, Talipes equinovarus, Ab...	OMIM:251230
Waardenburg Syndrome, Type 1	Hypoplastic iris stroma, Spina bifida, Myelomeningocele	OMIM:193500
Congenital Rubella Syndrome	Intrauterine growth retardation, Microphthalmia, Short stature, Abnormality of the metaphysis, Ap...	ORPHA:290
Autosomal Recessive Spondylocostal Dysostosis	Meningocele, Intrauterine growth retardation, Short stature, Finger syndactyly, Camptodactyly of ...	ORPHA:2311
Xk Aprosencephaly Syndrome	Abnormal morphology of the radius, Microphthalmia	ORPHA:3469
Orofaciodigital Syndrome Xi	Postaxial polydactyly	OMIM:612913
Orofaciodigital Syndrome Type 10	Fibular aplasia, Tarsal synostosis, Mesomelic leg shortening, Polysyndactyly of hallux, Mesomelic...	ORPHA:2756
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Postaxial polydactyly	OMIM:213010
Pallister-Hall Syndrome	Toe syndactyly, Microphthalmia, Mesoaxial hand polydactyly, Short stature, Oligodactyly, Holopros...	OMIM:146510
Lumbar Syndrome	Spina bifida, Myelomeningocele	ORPHA:83628
Warburg Micro Syndrome 4	Microphthalmia, Severe postnatal growth retardation, Short stature	OMIM:615663
Vater/Vacterl Association	Patent urachus, Triphalangeal thumb, Intrauterine growth retardation, Hypoplasia of the radius, A...	OMIM:192350
Warburg Micro Syndrome 3	Clinodactyly of the 5th finger, Postnatal growth retardation, Microphthalmia	OMIM:614222
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Abnormally large globe, Hydrocephalus, Postaxial polydactyly	OMIM:603387
Neu-Laxova Syndrome	Large hands, Intrauterine growth retardation, Spina bifida, Micromelia	ORPHA:2671
Fanconi Anemia, Complementation Group L	Microphthalmia, Hydrocephalus, Absent thumb, Intrauterine growth retardation	OMIM:614083
Hallermann-Streiff Syndrome	Microphthalmia, Metaphyseal widening, Proportionate short stature, Spina bifida, Slender long bon...	OMIM:234100
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Hydrocephalus	OMIM:601794
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Toe syndactyly, Microphthalmia, Intrauterine growth retardation, Talipes eq...	ORPHA:250989
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Hydrocephalus, Optic nerve hypoplasia	OMIM:615181
Curry-Jones Syndrome	Cutaneous finger syndactyly, Microphthalmia, Broad thumb, Syndactyly, Duplication of thumb phalan...	OMIM:601707
Adams-Oliver Syndrome	Microphthalmia, Abnormality of the upper limb, Finger syndactyly, Absent hand, Split hand, Brachy...	ORPHA:974
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia, Hypoplastic ilia, Bowing of the legs, Short long bone, Ivory epiphyses, Bowing of...	ORPHA:85167
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia, Hydrocephalus	OMIM:613153
Microphthalmia, Isolated, With Coloboma 10	Anophthalmia, Microphthalmia	OMIM:616428
Rhombencephalosynapsis	Polydactyly, Septo-optic dysplasia, Complete duplication of thumb phalanx, Finger syndactyly, Hyd...	ORPHA:59315
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Intrauterine growth retardation, Postaxial polydactyly, Preaxial polydactyly, Overlapping fingers...	OMIM:618142
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Meningocele, Hip dislocation	ORPHA:2003
Foveal Hypoplasia 2	Microphthalmia, Hypoplasia of the fovea	OMIM:609218
Nephronophthisis 15	Polydactyly	OMIM:614845
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Meningocele, Clinodactyly of the 5th finger, Short stature	ORPHA:2031
Seckel Syndrome 2	Clinodactyly of the 5th finger, Microphthalmia, Growth delay, Short stature	OMIM:606744
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Symphalangism affecting the phalanges of the hand, Microphthalmia, Camptodactyly of finger	ORPHA:2547
Trisomy 13	Microphthalmia, Intrauterine growth retardation, Anophthalmia, Aplasia/Hypoplasia of the iris, Bi...	ORPHA:3378
Orofaciodigital Syndrome Xv	Broad hallux, Postaxial polydactyly	OMIM:617127
Bardet-Biedl Syndrome 17	Polydactyly, Mesoaxial polydactyly, Postaxial foot polydactyly, Postaxial hand polydactyly, Short...	OMIM:615994
Au-Kline Syndrome	Deep palmar crease, Hip dysplasia, Overlapping toe, Postaxial polydactyly	OMIM:616580
Microphthalmia, Syndromic 8	Microphthalmia, Split foot	OMIM:601349
Sandestig-Stefanova Syndrome	Microphthalmia, Intrauterine growth retardation, Rocker bottom foot, Bilateral single transverse ...	OMIM:618804
Faciothoracogenital Syndrome	Microphthalmia	OMIM:227320
Otopalatodigital Syndrome Type 2	Fibular aplasia, Tarsal synostosis, Myelomeningocele, Bowing of the long bones, Synostosis of car...	ORPHA:90652
Chromosome 13Q33-Q34 Deletion Syndrome	Microphthalmia, Anencephaly, Talipes equinovarus, Tapered finger, Short stature, Short thumb, Cam...	OMIM:619148
Posterior Meningocele	Meningocele, Occipital meningocele, Hydromyelia, Neural tube defect, Hydrocephalus, Tethered cord...	ORPHA:268810
Neurofibromatosis, Type I	Short stature, Genu valgum, Spina bifida, Hydrocephalus, Tibial pseudarthrosis, Aqueductal stenosis	OMIM:162200
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Flat acetabular roof, Polydactyly, Hypoplastic scapulae, Postaxial polydactyly, Short stature, Bo...	OMIM:614091
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet	Clinodactyly of the 5th finger, Complete duplication of the 1st metatarsal, Preaxial polydactyly	OMIM:129540
Chromosome 3Pter-P25 Deletion Syndrome	Short stature, Tapered finger, Postaxial polydactyly, Macular hypoplasia, Postnatal growth retard...	OMIM:613792
Aicardi Syndrome	Postnatal growth retardation, Spina bifida, Microphthalmia, Proximal placement of thumb	OMIM:304050
Spondyloepiphyseal Dysplasia, Nishimura Type	Microphthalmia, Abnormal femoral neck/head morphology, Wide proximal femoral metaphysis, Abnormal...	ORPHA:163649
3P25.3 Microdeletion Syndrome	Microphthalmia, Postaxial polydactyly, Tapered finger, Congenital pseudoarthrosis of the clavicle...	ORPHA:435638
Joubert Syndrome 40	Optic nerve hypoplasia, Postaxial polydactyly	OMIM:619582
17Q12 Microduplication Syndrome	Toe syndactyly, Microphthalmia, Finger syndactyly	ORPHA:261272
Orofaciodigital Syndrome Iv	Toe syndactyly, Short stature, Postaxial polydactyly, Short finger, Foot polydactyly, Brachydacty...	OMIM:258860
Meckel Syndrome, Type 11	Polydactyly	OMIM:615397
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Absent tibia, Talipes equinovarus, Short metatarsal, Proximal placement of thumb, Hypoplasia of t...	OMIM:609945
Mosaic Trisomy 1	Toe syndactyly, Microphthalmia, Deviation of the 5th toe, Rocker bottom foot, Hand clenching, Bro...	ORPHA:1692
Ivic Syndrome	Upper limb undergrowth, Short clavicles, Triphalangeal thumb, Small thenar eminence, Hypoplasia o...	OMIM:147750
Acro-Renal-Ocular Syndrome	Short hallux, Broad hallux phalanx, Toe syndactyly, Microphthalmia, Radial club hand, Triphalange...	ORPHA:959
Dextrocardia With Unusual Facies And Microphthalmia	Anophthalmia, Microphthalmia	OMIM:221950
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Acromelic Frontonasal Dysplasia	Meningocele, Talipes equinovarus, Patellar hypoplasia, Aplasia/Hypoplasia of the tibia, Preaxial ...	ORPHA:1827
Short Rib-Polydactyly Syndrome	Abnormal ilium morphology, Syndactyly, Abnormal pelvis bone morphology, Short long bone, Flat ace...	ORPHA:1505
Microphthalmia, Syndromic 13	Microphthalmia, Short stature	OMIM:300915
Fanconi Anemia, Complementation Group S	Short stature, Microphthalmia, Proximal placement of thumb, Clinodactyly	OMIM:617883
Monosomy 13Q14	Microphthalmia, Intrauterine growth retardation, Short stature, Holoprosencephaly, Aplasia/Hypopl...	ORPHA:1587
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Intrauterine growth retardation, Postaxial polydactyly	OMIM:615824
Oculofaciocardiodental Syndrome	Broad palm, 2-3 toe syndactyly, Microphthalmia, Hammertoe, Cubitus valgus, Genu valgum, Flexion c...	ORPHA:2712
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Martsolf Syndrome 1	Metatarsus adductus, Microphthalmia, Slender ulna, Talipes equinovarus, Short stature, Short meta...	OMIM:212720
Neurocutaneous Melanocytosis	Meningocele, Syringomyelia	ORPHA:2481
Acromelic Frontonasal Dysostosis	Syndactyly, Polydactyly, Talipes equinovarus, Preaxial polydactyly	OMIM:603671
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Growth delay, Holoprosencephaly, Anophthalmia, Hydrocephalus	ORPHA:77298
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Chondrodysplasia Punctata 2, X-Linked Dominant	Tarsal stippling, Microphthalmia, Polydactyly, Postaxial polydactyly, Epiphyseal stippling, Stipp...	OMIM:302960
Solitary Median Maxillary Central Incisor	Holoprosencephaly, Anophthalmia, Microphthalmia, Short stature	OMIM:147250
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Intrauterine growth retardation, Aplasia/Hypoplasia of the thumb, Absent radius, ...	ORPHA:1352
Joubert Syndrome 23	Polydactyly	OMIM:616490
Joubert Syndrome 37	Microphthalmia, Short stature, Postaxial polydactyly	OMIM:619185
22Q11.2 Deletion Syndrome	Meningocele, Arrhinencephaly, Microphthalmia, Occipital myelomeningocele, Talipes equinovarus, Sh...	ORPHA:567
2Q31.1 Microdeletion Syndrome	Broad hallux phalanx, Abnormality of the ulna, Toe syndactyly, Microphthalmia, Abnormal metacarpa...	ORPHA:251014
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Short long bone, Brachydactyly, Postaxial polydactyly	OMIM:615633
Subaortic Stenosis-Short Stature Syndrome	Bilateral single transverse palmar creases, Microphthalmia, Synostosis of carpal bones, Short sta...	ORPHA:3191
Roberts Syndrome	Phocomelia, Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Hypoplasia of the radiu...	ORPHA:3103
Fanconi Anemia, Complementation Group I	Microphthalmia, Intrauterine growth retardation, Short stature, Optic nerve hypoplasia, Hypoplasi...	OMIM:609053
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Short stature, Polydactyly, Brachydactyly	OMIM:613819
Microphthalmia, Syndromic 12	Anophthalmia, Microphthalmia	OMIM:615524
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation	Microphthalmia	OMIM:120433
Kapur-Toriello Syndrome	Microphthalmia, Intrauterine growth retardation, Clinodactyly of the 5th toe, Joint contracture o...	OMIM:244300
Bardet-Biedl Syndrome 8	Polydactyly	OMIM:615985
Congenital Disorder Of Glycosylation, Type Iil	Intrauterine growth retardation, Growth delay, Postaxial polydactyly, Hip dysplasia, Hydrocephalus	OMIM:614576
Mullegama-Klein-Martinez Syndrome	Clinodactyly of the 5th finger, Polydactyly, Short stature	OMIM:301022
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Hydrocephalus, Umbilical hernia, Polydactyly	ORPHA:93400
Joubert Syndrome 20	Syndactyly, Postaxial polydactyly	OMIM:614970
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia, Proximal placement of thumb, Finger syndactyly, Postaxial foot poly...	ORPHA:139471
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects	Microphthalmia, Intrauterine growth retardation, Absent radius, Aplasia of the 1st metacarpal, Hy...	OMIM:600123
Intellectual Developmental Disorder, Autosomal Dominant 23	Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly	OMIM:615761
20P13 Microdeletion Syndrome	Clinodactyly, Polydactyly, Brachydactyly, Finger syndactyly	ORPHA:313781
Stromme Syndrome	Microphthalmia, Optic nerve hypoplasia, Stillbirth, Preaxial polydactyly, Hydrocephalus	OMIM:243605
Marden-Walker Syndrome	Microphthalmia, Intrauterine growth retardation, Talipes equinovarus, Arachnodactyly, Joint contr...	OMIM:248700
Pseudotrisomy 13 Syndrome	2-3 toe syndactyly, Microphthalmia, Holoprosencephaly, Hydrocephalus, Postaxial foot polydactyly,...	OMIM:264480
Orofaciodigital Syndrome I	Myelomeningocele, Polydactyly, Short stature, Abnormality of toe, Radial deviation of finger, Syn...	OMIM:311200
Jeune Syndrome	Toe syndactyly, Cone-shaped epiphysis, Short stature, Abnormality of the metaphysis, Short foot, ...	ORPHA:474
Microgastria-Limb Reduction Defect Syndrome	Arrhinencephaly, Microphthalmia, Growth delay, Phocomelia, Anophthalmia, Aplastic clavicle, Abnor...	ORPHA:2538
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia, Short stature	OMIM:251270
Trisomy 8Q	Brachydactyly, Deep palmar crease, Myelomeningocele, Camptodactyly of finger	ORPHA:1752
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Upper limb undergrowth, Short stature, Epiphyseal stippling, Prominent calcaneus, Short 1st metac...	ORPHA:96334
Joubert Syndrome 15	Polydactyly	OMIM:614464
Subaortic Stenosis--Short Stature Syndrome	Microphthalmia, Growth delay, Broad finger, Broad toe, Small hand, Short foot, Short palm, Short ...	OMIM:271960
Holoprosencephaly	Microphthalmia, Holoprosencephaly, Anophthalmia, Branchial anomaly, Hydrocephalus, Hand polydacty...	ORPHA:2162
Oculocerebrocutaneous Syndrome	Anophthalmia, Microphthalmia, Congenital hip dislocation	OMIM:164180
Pagod Syndrome	Meningocele, Spina bifida, Short stature	ORPHA:991
Arnold-Chiari Malformation Type Ii	Meningocele, Myelomeningocele, Syringomyelia, Hydrocephalus, Hand muscle atrophy, Aqueductal sten...	ORPHA:1136
Ritscher-Schinzel Syndrome 3	Microphthalmia, Epiphyseal stippling, Shortening of all distal phalanges of the fingers, Ulnar bo...	OMIM:619135
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Bilateral microphthalmos, Microphthalmia, Severe postnatal growth...	ORPHA:2399
Bartsocas-Papas Syndrome 2	Absent distal phalanges, Small hand, Microphthalmia	OMIM:619339
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microphthalmia, Short stature	OMIM:617914
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Absent tibia, Cone-shaped epiphysis, Talipes equinovarus, Postaxial polydactyly, Metaphyseal wide...	OMIM:613091
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Joubert Syndrome 16	Polydactyly	OMIM:614465
Lathosterolosis	Meningocele, Toe syndactyly, Intrauterine growth retardation, Postaxial foot polydactyly, Postaxi...	ORPHA:46059
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Abnormally large globe, Microphthalmia, Hydrocephalus	OMIM:615249
9Q21.13 Microdeletion Syndrome	Syringomyelia, Hip dysplasia, Postnatal growth retardation, Polydactyly	ORPHA:531151
Cohen Syndrome	Microphthalmia, Intrauterine growth retardation, Narrow palm, Tapered finger, Short stature, Cubi...	ORPHA:193
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Tethered cord, Spina bifida, Tapered finger	OMIM:619480
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Short stature, Syndactyly, Camptodactyly, Bilateral microphthalmos, Clinodactyly, Umbilical herni...	ORPHA:369891
Steinfeld Syndrome	Microphthalmia, Phocomelia, Holoprosencephaly, Aplasia/Hypoplasia of the thumb, Hypoplasia of the...	OMIM:184705
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Meningocele, Proximal femoral metaphyseal irregularity, Abnormal acetabulum morphology, Early oss...	ORPHA:397715
Hydrolethalus Syndrome 1	Arrhinencephaly, Upper limb undergrowth, Microphthalmia, Severe hydrocephalus, Anencephaly, Talip...	OMIM:236680
Mend Syndrome	2-3 toe syndactyly, Microphthalmia, Short stature, Long fingers, Overlapping fingers, Hydrocephal...	ORPHA:401973
Tarp Syndrome	Intrauterine growth retardation, Talipes equinovarus, Postaxial polydactyly, Hypoplasia of the ra...	OMIM:311900
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Postaxial polydactyly, Hypoplasia of the radius, Syndactyly, Micromelia, Brachydactyly, Hypoplast...	OMIM:617895
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia, Phocomelia, Holoprosencephaly, Aplasia/Hypoplasia of the thumb, Hypoplasia of the...	ORPHA:3186
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Microphthalmia	OMIM:212550
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	2-3 toe syndactyly, Microphthalmia, Postaxial polydactyly, Broad distal phalanx of finger, Postax...	ORPHA:404440
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Occipital meningocele, Aplasia/Hypoplasia of the phalanges of the toes, Phocomelia, Aplastic pubi...	OMIM:276820
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Baraitser-Winter Syndrome 1	Postnatal growth retardation, Short stature, Microphthalmia, Duplication of phalanx of hallux	OMIM:243310
Chromosome 17Q12 Duplication Syndrome	Broad thumb, Microphthalmia, Brachydactyly	OMIM:614526
Syngap1-Related Developmental And Epileptic Encephalopathy	Postaxial polydactyly	ORPHA:544254
Isolated Optic Nerve Hypoplasia/Aplasia	Growth delay, Optic disc hypoplasia, Optic nerve hypoplasia, Aplasia/Hypoplasia of the iris, Unil...	ORPHA:137902
Koolen-De Vries Syndrome Due To A Point Mutation	Anomaly of lower limb diaphyses, Arachnodactyly, Dural ectasia, Spina bifida, Hydrocephalus, Hand...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Anomaly of lower limb diaphyses, Arachnodactyly, Dural ectasia, Spina bifida, Hydrocephalus, Hand...	ORPHA:363958
Bardet-Biedl Syndrome 3	Brachydactyly, Postaxial polydactyly	OMIM:600151
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Postaxial polydactyly	OMIM:219730
Walker-Warburg Syndrome	Anophthalmia, Microphthalmia, Hydrocephalus, Metatarsus valgus	ORPHA:899
Adams-Oliver Syndrome 2	Microphthalmia, Single transverse palmar crease	OMIM:614219
Stevenson-Carey Syndrome	Hip dysplasia, Microphthalmia, Joint contracture of the hand, Camptodactyly	OMIM:611961
Oculodentodigital Dysplasia, Autosomal Recessive	Broad long bones, Microphthalmia, Short stature, Fifth finger distal phalanx clinodactyly, Small ...	OMIM:257850
Multiple Benign Circumferential Skin Creases On Limbs	Short stature, Microphthalmia, Umbilical hernia, Upper limb asymmetry	ORPHA:2505
Lateral Meningocele Syndrome	Meningocele, Short stature, Syringomyelia, Dural ectasia, Umbilical hernia	OMIM:130720
Nance-Horan Syndrome	Short metacarpal, Microphthalmia	ORPHA:627
Suleiman-El-Hattab Syndrome	Clinodactyly, Polydactyly, Brachydactyly, Single transverse palmar crease	OMIM:618950
Baraitser-Winter Syndrome 2	Microphthalmia, Short stature	OMIM:614583
Focal Dermal Hypoplasia	Short stature, Short metatarsal, Midclavicular hypoplasia, Foot polydactyly, Hydrocephalus, Short...	OMIM:305600
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Microphthalmia	OMIM:167730
Retinitis Pigmentosa 89	Postaxial polydactyly	OMIM:618955
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Split Cord Malformation	Meningocele, Hydromyelia, Myelomeningocele, Talipes equinovarus, Talipes cavus equinovarus, Syrin...	ORPHA:573278
Jacobsen Syndrome	Microphthalmia, Intrauterine growth retardation, Holoprosencephaly, Macular hypoplasia, Hydroceph...	OMIM:147791
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Short stature, Postaxial polydactyly, Acetabular spurs, Preaxial polydactyly, Syndactyly, Femoral...	OMIM:615503
Meckel Syndrome, Type 1	Microphthalmia, Anencephaly, Intrauterine growth retardation, Bowing of the long bones, Clinodact...	OMIM:249000
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Absent tibia, Polydactyly	OMIM:188740
Spondylo-Ocular Syndrome	Disproportionate short-trunk short stature, Microphthalmia, Aplasia/Hypoplasia of the lens, Short...	ORPHA:85194
Joubert Syndrome 7	Postaxial hand polydactyly, Postaxial polydactyly	OMIM:611560
Myoclonic-Astatic Epilepsy	Syndactyly, Microphthalmia	ORPHA:1942
Congenital Muscular Dystrophy With Cerebellar Involvement	Microphthalmia, Hydrocephalus, Optic nerve hypoplasia	ORPHA:370959
Incontinentia Pigmenti	Microphthalmia, Short stature, Finger syndactyly, Deviation of finger, Abnormal hand morphology, ...	ORPHA:464
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Anencephaly, Postaxial polydactyly, Aplastic clavicle, Preaxial polydactyly, Hydrocephalus, Micro...	OMIM:616546
Heart And Brain Malformation Syndrome	Hand clenching, Microphthalmia, Growth delay, Camptodactyly of finger	OMIM:616920
Refsum Disease	Abnormality of epiphysis morphology, Short metacarpal, Microphthalmia, Hammertoe	ORPHA:773
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia, Sandal gap, 3-4 toe syndactyly, Broad hallux, Clinodactyly, Brachydactyly	OMIM:618727
Fanconi Anemia, Complementation Group D2	Microphthalmia, Short stature, Absent radius, Complete duplication of thumb phalanx, Short thumb,...	OMIM:227646
Lateral Meningocele Syndrome	Meningocele, Syringomyelia, Dural ectasia, Umbilical hernia	ORPHA:2789
Yunis-Varon Syndrome	Arrhinencephaly, Short middle phalanx of finger, Short stature, Syndactyly, Hydrocephalus, Postna...	ORPHA:3472
Senior-Loken Syndrome 9	Polydactyly, Hypoplasia of the femoral head	OMIM:616629
Joubert Syndrome 32	Postaxial polydactyly	OMIM:617757
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia, Severe postnatal growth retardation, Talipes equinovarus, Epiphyseal stippling, S...	ORPHA:35173
Pseudoaminopterin Syndrome	Short stature, Postaxial polydactyly, Clinodactyly of the 5th toe, Synostosis of carpal bones, Sl...	ORPHA:221120
Monosomy 9Q22.3	Microphthalmia, Polydactyly, Palmar pits, Hydrocephalus, Umbilical hernia	ORPHA:77301
Meckel Syndrome	Microphthalmia, Lobar holoprosencephaly, Anencephaly, Anophthalmia, Bowing of the long bones, Apl...	ORPHA:564
Mycophenolate Mofetil Embryopathy	Foot polydactyly, Microphthalmia, Hydrocephalus, Short palm	ORPHA:268249
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Optic nerve hypoplasia, Broad proximal phalanges of the hand, Short foot, Bilateral microphthalmos	OMIM:607597
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia, Hydrocephalus	OMIM:616538
Fanconi Anemia, Complementation Group F	Microphthalmia, Intrauterine growth retardation, Short stature, Hypoplasia of the radius, Short t...	OMIM:603467
Rere-Related Neurodevelopmental Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Hip dysplasia, Microphthalmia	ORPHA:494344
Joubert Syndrome 17	Syndactyly, Polydactyly	OMIM:614615
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos, Short stature	OMIM:619318
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Mild short stature, Optic nerve hypoplasia, Microphthalmia, Short stature	OMIM:614833
Basel-Vanagaite-Smirin-Yosef Syndrome	2-3 toe syndactyly, Single transverse palmar crease, Microphthalmia, Adducted thumb, Finger synda...	ORPHA:464738
Microphthalmia, Lenz Type	Microphthalmia, Short stature, Complete duplication of thumb phalanx, Finger syndactyly, Camptoda...	ORPHA:568
Joubert Syndrome 2	Microphthalmia, Hydrocephalus, Postaxial hand polydactyly	OMIM:608091
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Adducted thumb, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia	OMIM:614643
Teebi-Shaltout Syndrome	Metatarsus adductus, Microphthalmia, Ulnar deviation of the hand, Rocker bottom foot, Talipes equ...	OMIM:272950
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Aplasia/Hypoplasia involving the pelvis, Hydrocephalus, Septo-optic dysplasia	ORPHA:3301
Sacral Defect With Anterior Meningocele	Meningocele	OMIM:600145
Warburg Micro Syndrome 2	Postnatal growth retardation, Microphthalmia, Overlapping toe	OMIM:614225
Cardioacrofacial Dysplasia 1	Limb undergrowth, Genu valgum, Postaxial polydactyly	OMIM:619142
3Q29 Microduplication Syndrome	Toe syndactyly, Microphthalmia, Aniridia, Sandal gap, Camptodactyly of toe	ORPHA:251038
Congenital Primary Aphakia	Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Microphthalmia	ORPHA:83461
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Rhizomelia, Microphthalmia	OMIM:615877
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Holoprosencephaly, Hydrocephalus, Postaxial hand polydactyly, Umbilical hernia	ORPHA:2166
Orofaciodigital Syndrome Type 6	Growth delay, Short stature, Mesoaxial polydactyly, Foot polydactyly, Preaxial polydactyly, Synda...	ORPHA:2754
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia, Postaxial polydactyly, Rhizomelia, Preaxial polydactyly, Flat acetabular roof, Hy...	OMIM:616300
Galloway-Mowat Syndrome 3	Microphthalmia, Intrauterine growth retardation, Short stature, Arachnodactyly, Hip dislocation, ...	OMIM:617729
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Galloway-Mowat Syndrome 1	Microphthalmia, Intrauterine growth retardation, Talipes equinovarus, Hypoplasia of the iris, Han...	OMIM:251300
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia, Postaxial polydactyly, Neonatal death, Fibular hypoplasia, Preaxial polydactyly, ...	OMIM:617925
Adnp Syndrome	2-3 toe syndactyly, Polydactyly, Short stature, Abnormality of toe, Abnormality of finger, Sandal...	ORPHA:404448
Congenital Fibrinogen Deficiency	Clubbing of fingers, Microphthalmia	ORPHA:335
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly	OMIM:217095
Holoprosencephaly 9	Microphthalmia, Short stature, Holoprosencephaly, Anophthalmia, Optic nerve hypoplasia, Hydroceph...	OMIM:610829
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Short stature, Microphthalmia, Overlapping toe	OMIM:618571
Encephalocraniocutaneous Lipomatosis	Microphthalmia, Hydrocephalus, Hypoplasia of the iris	OMIM:613001
Oculoauricular Syndrome	Microphthalmia, Microphakia, Phthisis bulbi, Macular hypoplasia, Spina bifida occulta	OMIM:612109
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Intrauterine growth retardation, Short stature, Growth delay, Holoprosencephaly, ...	ORPHA:1052
Arima Syndrome	Occipital meningocele, Postaxial foot polydactyly, Postaxial hand polydactyly	OMIM:243910
Microphthalmia, Isolated 3	Anophthalmia, Microphthalmia	OMIM:611038
Nance-Horan Syndrome	Broad finger, Short phalanx of finger, Microphthalmia	OMIM:302350
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Abnormal palmar dermatoglyphics, Intrauterine growth retardation, Postnatal growth retardation, M...	ORPHA:2728
Myhre Syndrome	2-3 toe syndactyly, Microphthalmia, Cone-shaped epiphysis, Short stature, Short finger, Hypoplast...	OMIM:139210
Lathosterolosis	Toe syndactyly, Myelomeningocele, Talipes equinovarus, Growth delay, Postaxial foot polydactyly, ...	OMIM:607330
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Postaxial polydactyly, Optic nerve hypoplasia, Hip dysplasia, Hydrocephalus, Broad hallux, Clinod...	ORPHA:457284
Joubert Syndrome 1	Clinodactyly, Occipital myelomeningocele, Postaxial hand polydactyly, Postaxial foot polydactyly	OMIM:213300
Oculo-Palato-Cerebral Syndrome	Microphthalmia, Intrauterine growth retardation, Short stature, Small hand, Short foot	ORPHA:2714
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Abnormality of the palmar creases	OMIM:618652
Frontorhiny	Finger clinodactyly, Brachydactyly, Microphthalmia, Camptodactyly of finger	ORPHA:391474
8Q21.11 Microdeletion Syndrome	Microphthalmia, Finger syndactyly, Camptodactyly of finger, Absent palmar crease, Abnormality of ...	ORPHA:284160
Fanconi Anemia, Complementation Group C	Microphthalmia, Intrauterine growth retardation, Short stature, Absent radius, Complete duplicati...	OMIM:227645
Fetal Alcohol Syndrome	Intrauterine growth retardation, Microphthalmia, Short stature	ORPHA:1915
Waardenburg Syndrome	Myelomeningocele	ORPHA:3440
Fryns Syndrome	Arrhinencephaly, Microphthalmia, Rocker bottom foot, Proximal placement of thumb, Stillbirth, Joi...	OMIM:229850
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Intrauterine growth retardation, Microphthalmia, Aplasia of the distal phalanx of the 5th finger,...	ORPHA:364577
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation	Microphthalmia	OMIM:152950
Bartsocas-Papas Syndrome 1	Microphthalmia, Intrauterine growth retardation, Talipes equinovarus, Hypoplastic scapulae, Hypop...	OMIM:263650
Pallister-Hall Syndrome	Arrhinencephaly, Polydactyly affecting the 4th finger, Short stature, Broad toe, Mesoaxial polyda...	ORPHA:672
Fanconi Anemia, Complementation Group E	Microphthalmia, Short stature, Absent radius, Complete duplication of thumb phalanx, Short thumb,...	OMIM:600901
Momo Syndrome	Short stature, Large hands, Congenital pseudoarthrosis of the clavicle, Short sternum, Femoral bo...	ORPHA:2563
Norrie Disease	Microphthalmia, Hypoplasia of the iris	OMIM:310600
Miller-Dieker Lissencephaly Syndrome	Intrauterine growth retardation, Polydactyly, Joint contracture of the hand, Camptodactyly, Clino...	OMIM:247200
Cockayne Syndrome B	Microphthalmia, Normal pressure hydrocephalus, Hypoplasia of the iris, Hypoplastic iliac wing, In...	OMIM:133540
Fanconi Anemia, Complementation Group A	Microphthalmia, Short stature, Absent radius, Complete duplication of thumb phalanx, Short thumb,...	OMIM:227650
Nephronophthisis 13	Polydactyly	OMIM:614377
Meier-Gorlin Syndrome 7	2-3 toe syndactyly, Aplasia/Hypoplasia of the patella, Growth delay, Short stature, Bowing of the...	OMIM:617063
Tarp Syndrome	Intrauterine growth retardation, Rocker bottom foot, Postaxial polydactyly, Talipes equinovarus, ...	ORPHA:2886
Skin Creases, Congenital Symmetric Circumferential, 1	Long fingers, Microphthalmia	OMIM:156610
Bardet-Biedl Syndrome 1	Postaxial polydactyly, Foot polydactyly, Radial deviation of finger, Short foot, Syndactyly, Post...	OMIM:209900
Oculodentodigital Dysplasia	Microphthalmia, Cubitus valgus, Short middle phalanx of the 5th finger, 3-4 toe syndactyly, 4-5 f...	OMIM:164200
Khan-Khan-Katsanis Syndrome	Buphthalmos, Intrauterine growth retardation, Short stature, Postaxial polydactyly, Clinodactyly	OMIM:618460
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Meningocele, Palmoplantar keratoderma, Flexion contracture of finger	ORPHA:1010
Roberts-Sc Phocomelia Syndrome	Severe intrauterine growth retardation, Microphthalmia, Hand oligodactyly, Phocomelia, Elbow flex...	OMIM:268300
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Microphthalmia, Syndromic 2	2-3 toe syndactyly, Microphthalmia, Talipes equinovarus, Hammertoe, Anophthalmia, Hand clenching,...	OMIM:300166
Dubowitz Syndrome	Microphthalmia, Intrauterine growth retardation, Hypoplasia of the iris, Postnatal growth retarda...	OMIM:223370
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Short stature, Tapered finger, Postaxial polydactyly, Small hand, Hip dislocation, Short foot, Hi...	OMIM:300968
Marfan Syndrome	Meningocele, Hypoplasia of the iris, Arachnodactyly, Dural ectasia, Protrusio acetabuli, Limited ...	ORPHA:558
Craniofacial Microsomia	Branchial anomaly, Microphthalmia, Hydrocephalus, Anophthalmia	OMIM:164210
Witteveen-Kolk Syndrome	Toe syndactyly, Microphthalmia, Intrauterine growth retardation, Short stature, Growth delay, Pro...	OMIM:613406
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Short stature, Short metacarpal, Short distal phalanx of finger, Acetabular dyspl...	OMIM:201180
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia, Hydrocephalus	OMIM:613150
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Holoprosencephaly, Microphthalmia, Hydrocephalus	OMIM:253800
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Intrauterine growth retardation, Lobar holoprosencephaly, Optic nerve hypoplasia, 4-5 finger synd...	ORPHA:468631
Anterior Segment Dysgenesis 5	Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris	OMIM:604229
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Tapered finger, Bilateral single transverse palmar creases, Camptodactyly of fing...	ORPHA:1236
Frontofacionasal Dysplasia	Microphthalmia, Short stature	ORPHA:1791
Matthew-Wood Syndrome	Anophthalmia, Intrauterine growth retardation, Microphthalmia	ORPHA:2470
Non-Syndromic Anorectal Malformation	Tethered cord, Syringomyelia, Myelomeningocele	ORPHA:557
3Q29 Microdeletion Syndrome	Clinodactyly of the 5th finger, Microphthalmia, Tapered finger	ORPHA:65286
Micro Syndrome	Intrauterine growth retardation, Microphthalmia, Delayed puberty, Short stature	ORPHA:2510
Exstrophy-Epispadias Complex	Spina bifida, Hydrocephalus	ORPHA:322
Rothmund-Thomson Syndrome, Type 2	Microphthalmia, Talipes equinovarus, Short stature, Small hand, Congenital hip dislocation, Short...	OMIM:268400
Manitoba Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	OMIM:248450
Charge Syndrome	Bifid femur, Microphthalmia, Intrauterine growth retardation, Short stature, Holoprosencephaly, A...	ORPHA:138
Rodrigues Blindness	Microphthalmia, Short stature	OMIM:268320
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:228390
Cranioectodermal Dysplasia 3	Short stature, Postaxial polydactyly, Sandal gap, Syndactyly, Brachydactyly	OMIM:614099
Microphthalmia, Syndromic 3	Microphthalmia, Short stature, Anophthalmia, Optic nerve hypoplasia, Postnatal growth retardation	OMIM:206900
Combined Pituitary Hormone Deficiencies, Genetic Forms	Polydactyly, Septo-optic dysplasia, Growth delay, Holoprosencephaly, Optic nerve hypoplasia, Pitu...	ORPHA:95494
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Intrauterine growth retardation, Polydactyly, Short stature, Arach...	ORPHA:464306
3Mc Syndrome 3	Growth delay, Short stature, Preaxial polydactyly, Clinodactyly, Radioulnar synostosis	OMIM:248340
Osteoporosis-Pseudoglioma Syndrome	Metaphyseal widening, Phthisis bulbi, Microphthalmia, Short stature	OMIM:259770
Rubinstein-Taybi Syndrome 1	High axial triradius, Polydactyly, Radial deviation of thumb terminal phalanx, Hypoplastic iliac ...	OMIM:180849
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Polydactyly	ORPHA:314655
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Single transverse palmar crease	OMIM:619053
Fontaine Progeroid Syndrome	Microphthalmia, Intrauterine growth retardation, Short stature, Neonatal death, Syndactyly, Hydro...	OMIM:612289
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Intrauterine growth retardation, Short finger, Aplasia of the distal phalanx of t...	OMIM:608670
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia, Growth delay	OMIM:234050
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Macular hypoplasia, Bilateral microph...	ORPHA:2334
Cat Eye Syndrome	Microphthalmia, Absent radius	OMIM:115470
Fraser Syndrome	Toe syndactyly, Microphthalmia, Myelomeningocele, Anophthalmia, Wide pubic symphysis, Finger synd...	ORPHA:2052
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Abnormality of the medullary cavity of the long bones, Short stature, Thickened c...	OMIM:127000
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Fraser Syndrome 1	Cutaneous finger syndactyly, Myelomeningocele, Anophthalmia, Aplasia/Hypoplasia of the thumb, Apl...	OMIM:219000
Autosomal Dominant Kenny-Caffey Syndrome	Cortical thickening of long bone diaphyses, Intrauterine growth retardation, Growth delay, Short ...	ORPHA:93325
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos, Adducted thumb, Short stature	OMIM:618874
Microphthalmia, Syndromic 5	Anophthalmia, Optic nerve hypoplasia, Microphthalmia, Short stature	OMIM:610125
Kinsship Syndrome	Polydactyly, Short stature, Fibular hypoplasia, Dislocated radial head, Hip dislocation, Mesomeli...	OMIM:619297
Otodental Syndrome	Lens coloboma, Microphthalmia	ORPHA:2791
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Buphthalmos, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia	OMIM:236670
Rabson-Mendenhall Syndrome	Severe postnatal growth retardation, Intrauterine growth retardation, Polydactyly, Short stature	ORPHA:769
Linear Skin Defects With Multiple Congenital Anomalies 1	Microphthalmia, Hydrocephalus, Short stature	OMIM:309801
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia, Intrauterine growth retardation, Short stature, Syndactyly, Hip dysplasia, Clinod...	OMIM:616975
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Charge Syndrome	Arrhinencephaly, Absent tibia, Microphthalmia, Bifid femur, Hand monodactyly, Holoprosencephaly, ...	OMIM:214800
Loeys-Dietz Syndrome 2	Talipes equinovarus, Postaxial polydactyly, Arachnodactyly, Joint contracture of the hand, Dural ...	OMIM:610168
Cranioectodermal Dysplasia 2	Polydactyly, Short stature, Rhizomelia, Syndactyly, Mesomelia, Postaxial hand polydactyly, Clinod...	OMIM:613610
Fryns Syndrome	Clinodactyly of the 5th finger, Microphthalmia, Short distal phalanx of finger	ORPHA:2059
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria

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